Canonical Allele Identifier: CA3395240

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338975C>G , CM000667.2:g.128338975C>G	GRCh38
NC_000005.9:g.127674667C>G , CM000667.1:g.127674667C>G	GRCh37
NC_000005.8:g.127702566C>G	NCBI36
NG_008750.1:g.204069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.214G>C
ENST00000703785.1:n.295G>C
ENST00000262464.9:c.3430G>C MANE Select	ENSP00000262464.4:p.Glu1144Gln
ENST00000262464.8:c.3430G>C	ENSP00000262464.4:p.Glu1144Gln
ENST00000507835.5:c.-21G>C	ENSP00000426839.1:n.-21G>C
ENST00000508053.5:c.3430G>C	ENSP00000424571.1:p.Glu1144Gln
ENST00000508989.5:c.3331G>C	ENSP00000425596.1:p.Glu1111Gln
ENST00000619499.4:c.3427G>C	ENSP00000482132.1:p.Glu1143Gln
NM_001999.3:c.3430G>C	NP_001990.2:p.Glu1144Gln
XM_017009228.2:c.3277G>C	XP_016864717.1:p.Glu1093Gln
NM_001999.4:c.3430G>C MANE Select	NP_001990.2:p.Glu1144Gln